List of variants in gene TYR reported as pathogenic for Oculocutaneous albinism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	rs28940876	0.00018
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	rs104894317	0.00011
NM_000372.5(TYR):c.896G>A (p.Arg299His)	rs61754375	0.00006
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	rs121908011	0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	rs104894316	0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	rs28940879	0.00001
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.1168C>G (p.His390Asp)	rs62645914
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)

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